Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry von Irgens, H. U., Molnes, J., Johansson, B. B., Ringdal, M., Skrivarhaug, T., Undlien, D. E., Søvik, O., Joner, G., Molven, A., Njølstad, P. R.

Volltext

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development von Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas

Volltext

Single-base insertions in the VNTR of the carboxyl ester lipase gene Ц A role in pancreatic disease? von Brekke, Ranveig S., Gravdal, A., El Jellas, K., Steine, S., Johansson, B.B., Njølstad, P., Xiao, X., Lowe, M., Mas, E., Fjeld, K., Molven, A.

Volltext

Lack of pancreatic body and tail in HNF1B mutation carriers von Haldorsen, I. S., Vesterhus, M., Ræder, H., Jensen, D. K., Søvik, O., Molven, A., Njølstad, P. R.

Volltext

New insights into the role of CEL-HYB in chronic pancreatitis: Protein aggregation and ER stress von Gravdal, A., Pettersen, H., Xunjun, X., El Jellas, K., Steine, S., Tjora, E., Lowe, M., Molven, A., Fjeld, K.

Volltext

To test, or not to test: time for a MODY calculator? von Njølstad, P. R., Molven, A.

Volltext

The genetic risk factor CEL-HYB causes chronic pancreatitis in mice von Fjeld, K., Gravdal, A., Pettersen, H.N., Verbeke, C.S., Solheim, M.H., El Jellas, K., Alam, J., Steine, S.J., Johansson, B.B., Njølstad, P.R., Xiao, X., Lowe, M.E., Molven, A.

Volltext

Independent mutational events in the hypervariable region of the carboxyl ester lipase gene: Identification of two new CEL-MODY families from Sweden and the Czech Republic von El Jellas, K., Dušátková, P., Molnes, J., Haldorsen, I., Tjora, E., Johansson, B., Fjeld, K., Johansson, S., Ů, Prúhová, Groop, L., Njølstad, P., Molven, A.

Volltext

The CEL-MODY mouse: A new genetic model for chronic pancreatitis von Fjeld, K., Gravdal, A., Abbedissen, I., Solheim, M., El Jellas, K., Steine, S., Johansson, B., Njølstad, P., Xiao, X., Lowe, M., Molven, A.

Volltext

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes von Sagen, J.V., Bjørkhaug, L., Haukanes, B.I., Grevle, L., Molnes, J., Nedrebø, B.G., Søvik, O., Njølstad, P.R., Johansson, S., Molven, A.

Volltext

Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based coho... von Hertel, J. K., Johansson, S., Ræder, H., Midthjell, K., Lyssenko, V., Groop, L., Molven, A., Njølstad, P. R.

Volltext

Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypopl... von Tjora, E., Wathle, G., Erchinger, F., Engjom, T., Molven, A., Aksnes, L., Haldorsen, I. S., Dimcevski, G., Ræder, H., Njølstad, P. R.

Volltext

Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study) von Eide, S. Å., Ræder, H., Johansson, S., Midthjell, K., Søvik, O., Njølstad, P. R., Molven, A.

Volltext

Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder von SJØHOLT, G, EBSTEIN, R. P, MURAD, I, MOLVEN, A, STEEN, V. M, LIE, R. T, BERLE, J. Ø, MALLET, J, DELEUZE, J. F, LEVINSON, D. F, LAURENT, C, MUIAHED, M, BANNOURA, I

Volltext

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways von Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, Martin, Nicholas G.

Volltext

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy von Sandal, T, Laborie, LB, Brusgaard, K, Eide, SÅ, Christesen, HBT, Søvik, O, Njølstad, PR, Molven, A

Volltext

Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene von Løvlie, Roger, Daly, Ann K., Molven, Anders, Idle, Jeffrey R., Steen, Vidar M.

Volltext

A frame-shift mutation in the carboxyl-ester lipase gene alters the intracellular localization of the CEL protein von Torsvik, J, Johansson, B.B, Fjeld, K, Marie, M, Saraste, J, Njølstad, P.R, Molven, A

Volltext

Wolcott–Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome von Søvik, O., Njølstad, P. R., Jellum, E., Molven, A.

Volltext

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases von El Jellas, Khadija, Dušátková, Petra, Haldorsen, Ingfrid S, Molnes, Janne, Tjora, Erling, Johansson, Bente B, Fjeld, Karianne, Johansson, Stefan, Průhová, Štěpánka, Groop, Leif, Löhr, J Matthias, Njølstad, Pål R, Molven, Anders

Volltext